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Biomedical subjects

R Soares

Publications and source records attributed to R Soares.

43 records · Page 3Linked to original sources
PubMedDate not supplied

[Analysis of mutations in the BRCA1 gene in patients with cancer of the breast and/or the ovary in Portugal].

Germline mutations in the BRCA1 gene confer an increased susceptibility to breast and ovarian cancer. Approximately 460 distinct mutations were founded scattered throughout the whole gene. However, several mutations were detected repeatedly in individuals of the same ethnic origin. There are no systematic studies concerning mutations in BRCA1 gene in Portugal. The aim of this study is to identify mutations inh this gene in patients with breast and/or ovarian cancer of Portuguese origin. Thirty-three cases of breast cancer and 3 of ovarian cancer were selected according to early age of onset and family history. Mutation screening of this gene was done by Protein Truncation Test (PTT) and Fragment analysis. Two de novo mutations were identified: 1) A frameshift mutation localised in exon 11 of BRCA1, was identify by the two techniques in an ovarian cancer case. Direct sequential revealed a deletion of 4 nucleotides (3444delAAAT); 2) An alteration in intron 18 (IVS 18 + 80delT) was observed in a breast cancer case. This is probably the first description of mutations in a series of patients with breast and/or cancer in the Portuguese population. The mutations identified in this study have not been previously described in other populations according to the Breast Cancer Information Core web site.

Breast Neoplasms↗
PubMedDate not supplied

Management of acute myocardial infarction in Portugal. Results of a nationwide survey.

UNLABELLED: The management of acute myocardial infarction (AMI) has improved markedly over the last decade. Large-scale trials have produced a large amount of evidence, and recommendations and guidelines have been established. Whether and to what extent these data have influenced everyday practice on a nationwide scale remains to be ascertained. The present observational prospective, registry was designed to assess current practice in in-hospital management of AMI in Portugal. For a period of 3 months (February to May, 1999), 44 centers, distributed all over the country, Atlantic islands included, enrolled 1372 cases of AMI corresponding to 1366 patients (996 male, mean age 65 +/- 13 years; 370 female, mean age 72 + 11 years; p < 0.0001). Non-ST segment elevation infarcts were present in 26% of cases. In-hospital mortality was 11.2% (154 pts, mean age 74 +/- 10 years). RESULTS: 519 pts (37.8%) were managed with reperfusion therapy, 413 of them with fibrinolysis (30.1%) and 106 with primary PTCA (7.7%). Besides the invasive procedures performed within the first few hours after admission, coronary angiography was performed in 327 more pts (26.1%); 143 pts were revascularized (PTCA in 117 pts and CABG in 26) and 96 more pts were discharged and referred for further revascularization. The total number of pts given or referred for a revascularization procedure (including the primary treatment) was 316 (20.6%). Besides reperfusion therapy the most commonly used drugs for secondary prevention were aspirin in 91%; ACE inhibitors in 63%; beta-blockers in 45%; and statins in 28%. Based on the results of this nationwide survey it can be concluded that the main international guidelines and recommendations for the medical management of acute myocardial infarction are generally being applied in Portugal.

Adult↗
PubMedDate not supplied

[Ventricular assist in children].

We describe the use of the Berlin Heart biventricular mechanical assistance device, as a bridge to transplant in a two-years old child suffering from end stage dilated cardiomiopathy. Ventricular support lasted for 3,5 months and led to successful transplantation. We describe the clinical case, the protocols used as well as present indications, techniques and problems related to the use of mechanical heart support in children.

Cardiomyopathy, Dilated↗
PubMedDate not supplied

[Endocrine arterial hypertension. Primary hyperaldosteronism].

The authors emphasize some adrenal embryologic features, mainly the cortex and medulla relationships. After brief considerations both on the biosynthesis and physiologic actions of aldosterone, the Primary Hyperaldosteronism physiopathology is described. The clinical, biochemical and anatomic evidences are presented as a basis for both the Syndrome diagnosis and its subtypes. The theoretical and practical aspects of the diagnostic tests are also referred as a basis for the rationale of the medical and surgical therapeutic approach. Some clinical and biochemical similar aspects between the Syndrome of Hyperaldosteronism and Essential Hypertension with low renin, are put forward as a possible physiopathologic link that could eventually contribute for a better understanding of the pathogenesis of Essential Hypertension.

Aldosterone↗